| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (66.3%) |
11822704 |
Neuroblastoma in a dysmorphic girl with a partial duplication of 2p caused by an unbalanced translocation. Yuksel A, Seven M, Karaman B, Yilmaz S, Deviren A, Hacihanefioglu S, Basaran S. Clin Dysmorphol. 2002;11(1):39-42. |
| Short philtrum Micrognathia | ||
| MYCN PTGES3 | ||
| Brain Neoplasms Child, Preschool Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 2 Craniofacial Abnormalities Fatal Outcome Females Homo sapiens Neuroblastoma Proto-Oncogene Mas | ||
| 2 (63.5%) |
3877102 |
The Dubowitz syndrome: a retrospective. Moller KT, Gorlin RJ. J Craniofac Genet Dev Biol Suppl. 1985;1:283-6. |
| Broad forehead Micrognathia Telecanthus | ||
| Body Height Child, Preschool Dentition Face Females Fetal Growth Retardation Growth Disorders Homo sapiens Infant Intellectual Disability Male Pregnancy Speech Disorders Syndrome | ||
| 3 (62.1%) |
24035971 |
Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy. Passariello A, De Brasi D, Defferrari R, Genesio R, Tufano M, Mazzocco K, Capasso M, Migliorati R, Martinsson T, Siani P, Nitsch L, Tonini GP. Eur J Med Genet. 2013;56(11):626-34. |
| Micrognathia Synophrys | ||
| MYCN | ||
| Brain Neoplasms Chromosome Deletion Chromosomes, Human, Pair 11 Craniosynostosis Females Gene Dosage Germ-Line Mutation Homo sapiens Infant N-Myc Proto-Oncogene Protein Neuroblastoma Nuclear Proteins Oncogene Proteins Syndrome | ||
| 4 (59.0%) |
19842870 |
Neuroblastoma in a patient with Coffin-Siris syndrome. Pollono D, Drut R, Cecotti N, Pollono A. Fetal Pediatr Pathol. 2009;28(4):185-91. |
| Micrognathia Anteverted nares | ||
| Child Face Fatal Outcome Homo sapiens Hypertrichosis Male Neuroblastoma Syndrome | ||
| 5 (49.6%) |
26286438 |
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. Segarra NG, Ballhausen D, Crawford H, Perreau M, Campos-Xavier B, van Spaendonck-Zwarts K, Vermeer C, Russo M, Zambelli PY, Stevenson B, Royer-Bertrand B, Rivolta C, Candotti F, Unger S, Munier FL, Superti-Furga A, Bonafe L. Am J Med Genet A. 2015;167A(12):2902-12. |
| Pointed chin Epiphyseal dysplasia Cervical instability | ||
| NBAS | ||
| rs368085185 | ||
| Child Child, Preschool Females Homo sapiens Infant Male Mutation Neoplasm Proteins Optic Atrophy Pelger-Huet Anomaly Pregnancy Retina Skin | ||
| 6 (48.8%) |
8415429 |
46,XY/47,XY, + 17p + mosaicism in amniocytes associated with fetal abnormalities despite normal fetal blood karyotype. Kingston HM, Nicolini U, Haslam J, Andrews T. Prenat Diagn. 1993;13(7):637-42. |
| Dandy-Walker malformation Polydactyly | ||
| Adult Amniotic Fluid Central Nervous System Chromosomes, Human, Pair 17 Females Homo sapiens Mosaicism Pregnancy Ultrasonography | ||
| 7 (47.6%) |
23401364 |
Neuroblastoma in a pediatric patient with a microduplication of 2p involving the MYCN locus. Van Mater D, Knelson EH, Kaiser-Rogers KA, Armstrong MB. Am J Med Genet A. 2013;161A(3):605-10. |
| High forehead Postaxial polydactyly | ||
| ALK MYCN | ||
| Abdominal Neoplasms Chromosomal Duplication Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 3 Gene Amplification Genetic Loci Homo sapiens Infant Male N-Myc Proto-Oncogene Protein Neuroblastoma Nuclear Proteins Oncogene Proteins Thoracic Neoplasms | ||
| 7 (47.6%) |
22893378 |
Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome. Thomas M, Enciso V, Stratton R, Shah S, Winder T, Tayeh M, Roeder E. Am J Med Genet A. 2012;158A(10):2534-6. |
| Coarse facial features Polydactyly | ||
| GPC3 | ||
| Beckwith-Wiedemann Syndrome Cerebellar Neoplasms Child Chromosomes, Human, X Exons Glypican Homo sapiens Male Medulloblastoma Mutation Spinal Cord Neoplasms | ||
| 9 (39.0%) |
28257693 |
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly. Tawamie H, Martianov I, Wohlfahrt N, Buchert R, Mengus G, Uebe S, Janiri L, Hirsch FW, Schumacher J, Ferrazzi F, Sticht H, Reis A, Davidson I, Colombo R, Abou Jamra R. Am J Hum Genet. 2017;100(3):555-561. |
| Microcephaly | ||
| TAF11 TAF13 TAF8 | ||
| c|SUB|T|119|A c|SUB|T|92|A p|SUB|L|31|H p|SUB|M|40|K rs1060505029 rs1060505030 | ||
| Alleles Females Homo sapiens Immunoprecipitation Infant Intellectual Disability Male Microcephaly Promoter Regions, Genetic Protein Conformation TATA-Binding Protein Associated Factors Transcription Factor TFIID Transcription, Genetic | ||
| 9 (39.0%) |
26463893 |
Coexistence of neuroblastoma and ganglioneuroma in a girl with a hemizygous deletion of chromosome 11q14.1-23.3. Shiohama T, Fujii K, Hino M, Shimizu K, Ohashi H, Kambe M, Nakatani Y, Mitsunaga T, Yoshida H, Ochiai H, Shimojo N. Am J Med Genet A. 2016;170A(2):492-497. |
| Microcephaly | ||
| CADM1 NCAM1 | ||
| CD56 Antigens Cell Adhesion Molecule-1 Cell Adhesion Molecules Child Chromosome Deletion Chromosomes, Human, Pair 11 Females Ganglioneuroma Homo sapiens Immunoglobulins Neoplasms, Multiple Primary Neuroblastoma Phenotype |
Total: 2
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0004375 | Neoplasm of the nervous system | Very frequent (99-80%) |
| HP:0011976 | Elevated urinary catecholamines | Very frequent (99-80%) |
Total: 296
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002664 | Neoplasm | 70 |
| HP:0100242 | Sarcoma | 54 |
| HP:0030731 | Carcinoma | 47 |
| HP:0002666 | Pheochromocytoma | 45 |
| HP:0000822 | Hypertension | 34 |
| HP:0001909 | Leukemia | 30 |
| HP:0010543 | Opsoclonus | 30 |
| HP:0001336 | Myoclonus | 24 |
| HP:0009792 | Teratoma | 24 |
| HP:0030065 | Primitive neuroectodermal tumor | 24 |
| HP:0031925 | Rosette | 24 |
| HP:0031500 | Abdominal mass | 22 |
| HP:0001251 | Ataxia | 18 |
| HP:0002861 | Melanoma | 18 |
| HP:0100008 | Schwannoma | 18 |
| HP:0002835 | Aspiration | 15 |
| HP:0002240 | Hepatomegaly | 13 |
| HP:0001298 | Encephalopathy | 12 |
| HP:0001028 | Hemangioma | 10 |
| HP:0002488 | Acute leukemia | 9 |
| HP:0002090 | Pneumonia | 8 |
| HP:0002098 | Respiratory distress | 8 |
| HP:0002668 | Paraganglioma | 8 |
| HP:0004376 | Neuroblastic tumors | 8 |
| HP:0010550 | Paraplegia | 8 |
| HP:0031926 | Homer Wright rosette | 8 |
| HP:0000952 | Jaundice | 7 |
| HP:0002176 | Spinal cord compression | 7 |
| HP:0002277 | Horner syndrome | 7 |
| HP:0007110 | Central hypoventilation | 7 |
| HP:0030064 | Neurocytoma | 7 |
| HP:0100790 | Hernia | 7 |
| HP:0002754 | Osteomyelitis | 6 |
| HP:0100632 | Pulmonary sequestration | 6 |
| HP:0025615 | Abscess | 5 |
| HP:0030431 | Osteochondroma | 5 |
| HP:0031273 | Shock | 5 |
| HP:0031501 | Pelvic mass | 5 |
| HP:0001638 | Cardiomyopathy | 4 |
| HP:0001649 | Tachycardia | 4 |
| HP:0001875 | Neutropenia | 4 |
| HP:0001903 | Anemia | 4 |
| HP:0002027 | Abdominal pain | 4 |
| HP:0002888 | Ependymoma | 4 |
| HP:0010566 | Hamartoma | 4 |
| HP:0000016 | Urinary retention | 3 |
| HP:0000126 | Hydronephrosis | 3 |
| HP:0000508 | Ptosis | 3 |
| HP:0000520 | Proptosis | 3 |
| HP:0000618 | Blindness | 3 |
| HP:0000979 | Purpura | 3 |
| HP:0001250 | Seizures | 3 |
| HP:0001482 | Subcutaneous nodule | 3 |
| HP:0001541 | Ascites | 3 |
| HP:0001919 | Acute kidney injury | 3 |
| HP:0001943 | Hypoglycemia | 3 |
| HP:0001945 | Fever | 3 |
| HP:0002013 | Vomiting | 3 |
| HP:0002243 | Protein-losing enteropathy | 3 |
| HP:0002435 | Meningocele | 3 |
| HP:0002650 | Scoliosis | 3 |
| HP:0002791 | Hypoventilation | 3 |
| HP:0003072 | Hypercalcemia | 3 |
| HP:0005306 | Capillary hemangioma | 3 |
| HP:0006748 | Adrenal pheochromocytoma | 3 |
| HP:0012032 | Lipoma | 3 |
| HP:0012315 | Histiocytoma | 3 |
| HP:0032404 | Testicular mass | 3 |
| HP:0100570 | Carcinoid tumor | 3 |
| HP:0000083 | Renal insufficiency | 2 |
| HP:0000100 | Nephrotic syndrome | 2 |
| HP:0000107 | Renal cyst | 2 |
| HP:0000112 | Nephropathy | 2 |
| HP:0000252 | Microcephaly | 2 |
| HP:0000476 | Cystic hygroma | 2 |
| HP:0000718 | Aggressive behavior | 2 |
| HP:0000767 | Pectus excavatum | 2 |
| HP:0000790 | Hematuria | 2 |
| HP:0001067 | Neurofibromas | 2 |
| HP:0001249 | Intellectual disability | 2 |
| HP:0001287 | Meningitis | 2 |
| HP:0001324 | Muscle weakness | 2 |
| HP:0001394 | Cirrhosis | 2 |
| HP:0001558 | Decreased fetal movement | 2 |
| HP:0001876 | Pancytopenia | 2 |
| HP:0002014 | Diarrhea | 2 |
| HP:0002041 | Intractable diarrhea | 2 |
| HP:0002202 | Pleural effusion | 2 |
| HP:0002315 | Headache | 2 |
| HP:0002860 | Squamous cell carcinoma | 2 |
| HP:0002863 | Myelodysplasia | 2 |
| HP:0002878 | Respiratory failure | 2 |
| HP:0002898 | Embryonal neoplasm | 2 |
| HP:0003002 | Breast carcinoma | 2 |
| HP:0004322 | Short stature | 2 |
| HP:0010310 | Chylothorax | 2 |
| HP:0011286 | Total colonic aganglionosis | 2 |
| HP:0011974 | Myelofibrosis | 2 |
| HP:0012074 | Tonic pupil | 2 |
| HP:0012151 | Hemothorax | 2 |
| HP:0012226 | Ovarian teratoma | 2 |
| HP:0025247 | Dermoid cyst | 2 |
| HP:0025318 | Ovarian carcinoma | 2 |
| HP:0030071 | Medulloepithelioma | 2 |
| HP:0031364 | Ecchymosis | 2 |
| HP:0032118 | Retinitis | 2 |
| HP:0032252 | Granuloma | 2 |
| HP:0100614 | Myositis | 2 |
| HP:0100658 | Cellulitis | 2 |
| HP:0100727 | Histiocytosis | 2 |
| HP:0100735 | Hypertensive crisis | 2 |
| HP:0100806 | Sepsis | 2 |
| HP:0000028 | Cryptorchidism | 1 |
| HP:0000047 | Hypospadias | 1 |
| HP:0000049 | Shawl scrotum | 1 |
| HP:0000070 | Ureterocele | 1 |
| HP:0000074 | Ureteropelvic junction obstruction | 1 |
| HP:0000075 | Renal duplication | 1 |
| HP:0000085 | Horseshoe kidney | 1 |
| HP:0000093 | Proteinuria | 1 |
| HP:0000099 | Glomerulonephritis | 1 |
| HP:0000103 | Polyuria | 1 |
| HP:0000125 | Pelvic kidney | 1 |
| HP:0000136 | Bifid uterus | 1 |
| HP:0000138 | Ovarian cyst | 1 |
| HP:0000141 | Amenorrhea | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000243 | Trigonocephaly | 1 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000311 | Round face | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000486 | Strabismus | 1 |
| HP:0000526 | Aniridia | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0000601 | Hypotelorism | 1 |
| HP:0000664 | Synophrys | 1 |
| HP:0000691 | Microdontia | 1 |
| HP:0000695 | Natal tooth | 1 |
| HP:0000752 | Hyperactivity | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000821 | Hypothyroidism | 1 |
| HP:0000832 | Primary hypothyroidism | 1 |
| HP:0000843 | Hyperparathyroidism | 1 |
| HP:0000859 | Hyperaldosteronism | 1 |
| HP:0000939 | Osteoporosis | 1 |
| HP:0000961 | Cyanosis | 1 |
| HP:0000995 | Melanocytic nevus | 1 |
| HP:0001082 | Cholecystitis | 1 |
| HP:0001095 | Hypertensive retinopathy | 1 |
| HP:0001271 | Polyneuropathy | 1 |
| HP:0001281 | Tetany | 1 |
| HP:0001283 | Bulbar palsy | 1 |
| HP:0001310 | Dysmetria | 1 |
| HP:0001334 | Communicating hydrocephalus | 1 |
| HP:0001399 | Hepatic failure | 1 |
| HP:0001409 | Portal hypertension | 1 |
| HP:0001510 | Growth delay | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0001640 | Cardiomegaly | 1 |
| HP:0001744 | Splenomegaly | 1 |
| HP:0001824 | Weight loss | 1 |
| HP:0001878 | Hemolytic anemia | 1 |
| HP:0001888 | Lymphopenia | 1 |
| HP:0001891 | Iron deficiency anemia | 1 |
| HP:0001913 | Granulocytopenia | 1 |
| HP:0001920 | Renal artery stenosis | 1 |
| HP:0001959 | Polydipsia | 1 |
| HP:0001974 | Leukocytosis | 1 |
| HP:0001978 | Extramedullary hematopoiesis | 1 |
| HP:0001987 | Hyperammonemia | 1 |
| HP:0001994 | Renal Fanconi syndrome | 1 |
| HP:0001998 | Neonatal hypoglycemia | 1 |
| HP:0002018 | Nausea | 1 |
| HP:0002019 | Constipation | 1 |
| HP:0002040 | Esophageal varix | 1 |
| HP:0002047 | Malignant hyperthermia | 1 |
| HP:0002094 | Dyspnea | 1 |
| HP:0002099 | Asthma | 1 |
| HP:0002110 | Bronchiectasis | 1 |
| HP:0002133 | Status epilepticus | 1 |
| HP:0002148 | Hypophosphatemia | 1 |
| HP:0002212 | Curly hair | 1 |
| HP:0002270 | Abnormality of the autonomic nervous system | 1 |
| HP:0002323 | Anencephaly | 1 |
| HP:0002414 | Spina bifida | 1 |
| HP:0002516 | Increased intracranial pressure | 1 |
| HP:0002524 | Cataplexy | 1 |
| HP:0002527 | Falls | 1 |
| HP:0002558 | Supernumerary nipple | 1 |
| HP:0002584 | Intestinal bleeding | 1 |
| HP:0002590 | Paralytic ileus | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0002643 | Neonatal respiratory distress | 1 |
| HP:0002781 | Upper airway obstruction | 1 |
| HP:0002808 | Kyphosis | 1 |
| HP:0002840 | Lymphadenitis | 1 |
| HP:0002897 | Parathyroid adenoma | 1 |
| HP:0002900 | Hypokalemia | 1 |
| HP:0002901 | Hypocalcemia | 1 |
| HP:0002912 | Methylmalonic acidemia | 1 |
| HP:0002943 | Thoracic scoliosis | 1 |
| HP:0002960 | Autoimmunity | 1 |
| HP:0003095 | Septic arthritis | 1 |
| HP:0003355 | Aminoaciduria | 1 |
| HP:0003419 | Low back pain | 1 |
| HP:0003470 | Paralysis | 1 |
| HP:0004387 | Enterocolitis | 1 |
| HP:0004444 | Spherocytosis | 1 |
| HP:0005162 | Left ventricular dysfunction | 1 |
| HP:0005208 | Secretory diarrhea | 1 |
| HP:0005263 | Gastritis | 1 |
| HP:0005280 | Depressed nasal bridge | 1 |
| HP:0005521 | Disseminated intravascular coagulation | 1 |
| HP:0005523 | Lymphoproliferative disorder | 1 |
| HP:0005945 | Laryngeal obstruction | 1 |
| HP:0005977 | Hypochloremic metabolic alkalosis | 1 |
| HP:0006559 | Hepatic calcification | 1 |
| HP:0006740 | Transitional cell carcinoma of the bladder | 1 |
| HP:0007209 | Facial paralysis | 1 |
| HP:0007269 | Spinal muscular atrophy | 1 |
| HP:0008071 | Maternal hypertension | 1 |
| HP:0008221 | Adrenal hyperplasia | 1 |
| HP:0008256 | Adrenocortical adenoma | 1 |
| HP:0008443 | Spinal deformities | 1 |
| HP:0010280 | Stomatitis | 1 |
| HP:0010307 | Stridor | 1 |
| HP:0010314 | Premature thelarche | 1 |
| HP:0010442 | Polydactyly | 1 |
| HP:0010512 | Adrenal calcification | 1 |
| HP:0010783 | Erythema | 1 |
| HP:0010799 | Pinealoma | 1 |
| HP:0010866 | Abdominal wall defect | 1 |
| HP:0010960 | Bronchopulmonary sequestration | 1 |
| HP:0010962 | Extralobar sequestration | 1 |
| HP:0011002 | Osteopetrosis | 1 |
| HP:0011672 | Cardiac myxoma | 1 |
| HP:0011769 | Ectopic parathyroid | 1 |
| HP:0011798 | Renal oncocytoma | 1 |
| HP:0011854 | Hemoperitoneum | 1 |
| HP:0011900 | Hypofibrinogenemia | 1 |
| HP:0011946 | Bronchiolitis obliterans | 1 |
| HP:0011976 | Elevated urinary catecholamines | 1 |
| HP:0012050 | Anasarca | 1 |
| HP:0012062 | Bone cyst | 1 |
| HP:0012115 | Hepatitis | 1 |
| HP:0012119 | Methemoglobinemia | 1 |
| HP:0012231 | Exudative retinal detachment | 1 |
| HP:0012246 | Oculomotor nerve palsy | 1 |
| HP:0012324 | Myeloid leukemia | 1 |
| HP:0012418 | Hypoxemia | 1 |
| HP:0012486 | Myelitis | 1 |
| HP:0012597 | Heavy proteinuria | 1 |
| HP:0012735 | Cough | 1 |
| HP:0012847 | Epilepsia partialis continua | 1 |
| HP:0030050 | Narcolepsy | 1 |
| HP:0030063 | Neuroepithelial neoplasm | 1 |
| HP:0030070 | Central primitive neuroectodermal tumor | 1 |
| HP:0030149 | Cardiogenic shock | 1 |
| HP:0030157 | Flank pain | 1 |
| HP:0030357 | Small cell lung carcinoma | 1 |
| HP:0030722 | Ectopic liver | 1 |
| HP:0030741 | Mediastinal teratoma | 1 |
| HP:0030838 | Hip pain | 1 |
| HP:0031002 | Neuritis | 1 |
| HP:0031207 | Hepatic hemangioma | 1 |
| HP:0031218 | Inappropriate antidiuretic hormone secretion | 1 |
| HP:0031245 | Productive cough | 1 |
| HP:0031491 | Continuous spike and waves during slow sleep | 1 |
| HP:0031690 | Opportunistic infection | 1 |
| HP:0031846 | Femur fracture | 1 |
| HP:0031864 | Bacteremia | 1 |
| HP:0031927 | Flexner-Wintersteiner rosette | 1 |
| HP:0031972 | Presyncope | 1 |
| HP:0032026 | Anetoderma | 1 |
| HP:0032070 | Leptomeningeal enhancement | 1 |
| HP:0040075 | Hypopituitarism | 1 |
| HP:0040169 | Loose anagen hair | 1 |
| HP:0040192 | APUdoma | 1 |
| HP:0045040 | Abnormal lactate dehydrogenase activity | 1 |
| HP:0100001 | Malignant mesothelioma | 1 |
| HP:0100006 | Neoplasm of the central nervous system | 1 |
| HP:0100028 | Ectopic thyroid | 1 |
| HP:0100518 | Dysuria | 1 |
| HP:0100580 | Barrett esophagus | 1 |
| HP:0100584 | Endocarditis | 1 |
| HP:0100620 | Germinoma | 1 |
| HP:0100633 | Esophagitis | 1 |
| HP:0100660 | Dyskinesia | 1 |
| HP:0100723 | Gastrointestinal stroma tumor | 1 |
| HP:0100726 | Kaposi's sarcoma | 1 |
| HP:0100750 | Atelectasis | 1 |
| HP:0100769 | Synovitis | 1 |
| HP:0100817 | Renovascular hypertension | 1 |
| HP:0200040 | Epidermoid cyst | 1 |
| HP:0200119 | Acute hepatitis | 1 |
Total: 8
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|---|---|
| MYCN | MYCN proto-oncogene, bHLH transcription factor | 4613 |
| LMO1 | LIM domain only 1 | 4004 |
| PHOX2B | paired like homeobox 2B | 8929 |
| TOP2A | DNA topoisomerase II alpha | 7153 |
| ALK | ALK receptor tyrosine kinase | 238 |
| ALK | ALK receptor tyrosine kinase | 238 |
| HACE1 | HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | 57531 |
| LIN28B | lin-28 homolog B | 389421 |